ABCMdb

ABCB4 p.Glu604Gln

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Publications

PMID: 18457353 [PubMed] Kuo KK et al: "Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease."

No. Sentence Comment

26 In previous studies, five non-synonymous polymorphisms in ABCG5 (E604Q) and ABCG8 (C54Y, D19H, T400K, A632V) have been linked to cholesterol homeostasis, especially in cholesterol absorption efficiency and cholesterol saturation of bile. Login to comment
44 Relevant non-synonymous polymorphisms of ABCG5 (E604Q) and ABCG8 (C54Y, D19H, T400K, A632V) associated with biliary cholesterol secretion were chosen for this study. Login to comment
46 The specific primers were designed using Primer 3 software according to SNP reference of GenBank mapping in the National Center for Biotechnology Information database (rs6720173 for E604Q, rs11887534 for D19H, rs4148211 for C54Y, rs4148217 for T400K, rs6544718 for A632V). Login to comment
56 Binary logistic regression gave odds ratios of having gallstones under the influence of genotypes E604Q (CC versus GG + GC), D19H (GC versus GG) and C54Y (AA versus GG + GA). Login to comment
57 For the crude odds ratio, the presence or absence of gallstones was the dependent variable, and the E604Q, D19H or C54Y genotype was the independent variable. Login to comment
67 Table 2 shows allele frequencies of the five nonsynonymous polymorphisms (ABCG5: E604Q; ABCG8: D19H, C54Y, T400K, A632V). Login to comment
75 There was a significant correlation of gallstone disease with the genotype distribution of E604Q, D19H and C54Y polymorphisms. Login to comment
76 The minor alleles of E604Q, D19H and C54Y polymorphisms were overexpressed in patients with gallstones compared with controls. Login to comment
77 For example, in the E604Q polymorphism, the frequency of the CC genotype was 4 per cent in the gallstone group compared with 0·7 per cent in the stone-free group, and the frequency of the D19H (GC) variant was 8 per cent in the gallstone group compared with 2·1 per cent in the group without gallstones. Login to comment
83 *Two-sample Student`s t test, except †Pearson χ2 test. Table 2 Allele frequencies of the polymorphisms in ABCG5 and ABCG8 genes in 979 subjects Gene Allele NCBI SNP reference Ratio Frequency (%) ABCG5: E604Q G1810C rs 6720173 G : C 89·5 : 10·5 ABCG8: D19H G55C rs 11887534 G : C 98·6 : 1·4 ABCG8: C54Y G161A rs 4148211 G : A 90·3 : 9·7 ABCG8: T400K C1199A rs 4148217 C : A 92·0 : 8·0 ABCG8: A632V T1895C rs 6544718 T : C 0 : 100 NCBI, National Center for Biotechnology Information; SNP, single nucleotide polymorphism. Login to comment
84 Table 3 Association of genotype frequency of ABCG5 and ABCG8 with gallstone development No stones (n = 905) Gallstones (n = 74) P* Power (%) ABCG5: E604Q (G1810C) Genotype GG 691 (79·2) 52 (74) 0·011 18 GC 175 (20·1) 15 (21) CC 6 (0·7) 3 (4) ABCG8: D19H (G55C) Genotype GG 851 (97·9) 66 (92) 0·001 79 GC 18 (2·1) 6 (8) ABCG8: C54Y (G161A) Genotype GG 747 (82·5) 54 (73) 0·041 53 GA 152 (16·8) 18 (24) AA 6 (0·7) 2 (3) ABCG8: T400K (C1199A) Genotype CC 739 (84·5) 58 (79) 0·463 22 CA 134 (15·3) 15 (21) AA 2 (0·2) 0 (0) Values in parentheses are percentages. Login to comment
85 *Pearson χ2 test. Table 4 Gallstone risk associated with ABCG5 and ABCG8 polymorphisms Genotype Crude odds ratio P† Adjusted odds ratio* P† E604Q GG + GC 1·0 CC 6·5 (1·6, 26·4) 0·009 4·7 (1·1, 21·1) 0·042 D19H GG 1·0 GC 4·3 (1·7, 11·2) 0·003 3·5 (1·2, 9·6) 0·018 C54Y GG + GA 1·0 AA 4·1 (0·8, 20·9) 0·085 3·2 (0·6, 17·3) 0·170 Values in parentheses are 95 per cent confidence intervals. Login to comment
95 Discussion This study found a significant correlation between the distribution of E604Q and D19H (GC) polymorphisms and gallstone disease in the Taiwanese population. Login to comment
98 The study also found that serum levels of total Table 5 Gallstone risk associated with ABCG5 and ABCG8 polymorphisms stratified by age Age < 50 years Age ≥ 50 years Genotype Crude odds ratio P‡ Adjusted odds ratio* P‡ Crude odds ratio P‡ Adjusted odds ratio* P‡ E604Q GG + GC 1·0 CC† 6·0 (1·3, 27·7) 0·022 6·4 (1·3, 30·7) 0·020 D19H GG 1·0 1·0 GC 6·4 (1·3, 32·7) 0·025 12·4 (1·7, 90·0) 0·013 2·8 (0·9, 9·2) 0·088 2·5 (0·8, 8·6) 0·133 Values in parentheses are 95 per cent confidence intervals. Login to comment
78 For further analysis of the odds ratios of minor genotypes with gallstone disease, carriers of GG and GC genotypes of E604Q and those of GG and GA genotypes of C54Y were combined. Login to comment

PMID: 11087362 [PubMed] Urbatsch IL et al: "Mutational analysis of conserved carboxylate residues in the nucleotide binding sites of P-glycoprotein."

No. Sentence Comment

63 A similar strategy was used to create mutants D592N and E604Q. Login to comment
137 Single-point mutations D450N, E482Q, E552Q, D558N, D592N, and E604Q were introduced into the NB1 of Mdr3, and mutations D1093N, E1125Q, E1197Q, D1203N, D1237N, and E1249Q were introduced independently into the NB2. Login to comment
153 Cells expressing WT Mdr3 or the NB1 mutants D450N, E482Q, D592N, and E604Q (Figure 3A) or their NB2 counterparts D1093N, E1125Q, D1237N, and E1249Q (Figure 3B) were all resistant to FK506. Login to comment
169 Mating frequencies of mutants D450N (104%), E482Q (127%), D592N (22%), and E604Q (85%) in NB1 (Figure 4) or their counterparts D1093N (72%), E1125Q (101%), D1237N (68%), and E1249Q (118%) in NB2 (Figure 4) were similar to that of the Mdr3 WT control. Login to comment
259 Single-point mutations D450N, E482Q, D592N, and E604Q were introduced in NB1 and their homologous substitutions D1093N, E1125Q, D1237N, and E1249Q created in NB2, and the mutants were transformed in the yeast S. cereVisiae to assess their biological activity. Login to comment